[White sponge naevus. Report of a family with respect to histopathologic, cytopathologic and DNA-cytometric aspects]

The white sponge naevus is a rare benign, hereditary autosomal dominant disorder of the mucosa. The oral mucosa is most often affected, but vaginal and anal mucosal surfaces may also be involved. Clinically, a whitish-grey, ragged, and folded surface that has no clear demarcation and appears sponge-like is characteristic, often creating problems in differential diagnosis. A potential risk for malignant transformation of white sponge naevus lesions has not been reported. The therapy for this benign hereditary disorder is unknown, however does not appear to be necessary. In the present report of a family with known white sponge naevus in three different generations, clinical, histopathologic, cytopathologic, DNA-cytomertric, and genetic aspects are described and discussed.

Allelic Heterogeneity at the Equine KIT Locus in Dominant White (W) Horses

White coat color has been a highly valued trait in horses for at least 2,000 years. Dominant white (W) is one of several known depigmentation phenotypes in horses. It shows considerable phenotypic variation, ranging from approximately 50% depigmented areas up to a completely white coat. In the horse, the four depigmentation phenotypes roan, sabino, tobiano, and dominant white were independently mapped to a chromosomal region on ECA 3 harboring the KIT gene. KIT plays an important role in melanoblast survival during embryonic development. We determined the sequence and genomic organization of the approximately 82 kb equine KIT gene. A mutation analysis of all 21 KIT exons in white Franches-Montagnes Horses revealed a nonsense mutation in exon 15 (c.2151C>G, p.Y717X). We analyzed the KIT exons in horses characterized as dominant white from other populations and found three additional candidate causative mutations. Three almost completely white Arabians carried a different nonsense mutation in exon 4 (c.706A>T, p.K236X). Six Camarillo White Horses had a missense mutation in exon 12 (c.1805C>T, p.A602V), and five white Thoroughbreds had yet another missense mutation in exon 13 (c.1960G>A, p.G654R). Our results indicate that the dominant white color in Franches-Montagnes Horses is caused by a nonsense mutation in the KIT gene and that multiple independent mutations within this gene appear to be responsible for dominant white in several other modern horse populations.

Wheeze and asthma prevalence and related health-service use in white and south Asian pre-schoolchildren in the United Kingdom

BACKGROUND: Epidemiological data for south Asian children in the United Kingdom are contradictory, showing a lower prevalence of wheeze, but a higher rate of medical consultations and admissions for asthma compared with white children. These studies have not distinguished different asthma phenotypes or controlled for varying environmental exposures. OBJECTIVE: To compare the prevalence of wheeze and related health-service use in south Asian and white pre-schoolchildren in the United Kingdom, taking into account wheeze phenotype (viral and multiple wheeze) and environmental exposures. METHODS: A postal questionnaire was completed by parents of a population-based sample of 4366 white and 1714 south Asian children aged 1-4 years in Leicestershire, UK. Children were classified as having viral wheeze or multiple trigger wheeze. RESULTS: The prevalence of current wheeze was 35.6% in white and 25.5% in south Asian 1-year-olds (P<0.001), and 21.9% and 20.9%, respectively, in children aged 2-4 years. Odds ratios (ORs) (95% confidence interval) for multiple wheeze and for viral wheeze, comparing south Asian with white children, were 2.21 (1.19-4.09) and 1.43 (0.77-2.65) in 2-4-year-olds after controlling for socio-economic conditions, environmental exposures and family history. In 1-year-olds, the respective ORs for multiple and viral wheeze were 0.66 (0.47-0.92) and 0.81 (0.64-1.03). Reported GP consultation rates for wheeze and hospital admissions were greater in south Asian children aged 2-4 years, even after adjustment for severity, but the use of inhaled corticosteroids was lower. CONCLUSIONS: South Asian 2-4-year-olds are more likely than white children to have multiple wheeze (a condition with many features of chronic atopic asthma), after taking into account ethnic differences in exposure to some environmental agents. Undertreatment with inhaled corticosteroids might partly explain their greater use of health services.

Preference of dairy cows for ryegrass, white clover and red clover, and its effects on nutrient supply and milk quality

Two experiments were conducted with 30 dairy cows each, to study the preference for fresh (Experiment 1) and ensiled (Experiment 2) ryegrass, white and red clover. Both experiments consisted of three choice diets with white or red clover or both, offered with ryegrass, and two diets with ryegrass mixed with white or red clover (40% clover). Cows consumed diets with 37.7% fresh white and 45.9% red clover, and no preference was observed when the cows were offered all three forages. By contrast, cows preferred white and red clover silage (73.0 and 69.2%, respectively) over ryegrass silage (of lower nutritive quality). When offered three forages, cows preferred white (59.8%) over red clover (17.5%) and ryegrass (22.7%). Choice diets resulted in diets similar (fresh forages) or higher in nutrient content and digestibility (silages). Treatments did not affect feed intake and performance. Choices compared to mixed diets with red clover silage were preferable regarding the fatty acid composition of the milk fat. Obviously, only large differences in nutrient and energy concentration facilitate preferences for clovers over ryegrass, which could, depending on clover type, be beneficial in terms of the milk's fatty acid composition.

Heart failure in two West Highland white terriers caused by congenital angiomatous cardiac anomaly

The paper describes the clinical and pathological characteristics of an unusual cystic congenital cardiac anomaly that caused clinical signs of congestive heart failure, respiratory distress and cardiac arrhythmias in two West Highland white terrier puppies. In both dogs a definitive diagnosis was made postmortem.

Relation of white matter anisotropy to visual memory in 17 healthy subjects

We performed a Rey visual design learning test (RVDLT) in 17 subjects and measured intervoxel coherence (IC) by DTI as an indication of connectivity to investigate if visual memory performance would depend on white matter structure in healthy persons. IC considers the orientation of the adjacent voxels and has a better signal-to-noise ratio than the commonly used fractional anisotropy index. Voxel-based t-test analysis of the IC values was used to identify neighboring voxel clusters with significant differences between 7 low and 10 high test performers. We detected 9 circumscribed significant clusters (p< .01) with lower IC values in low performers than in high performers, with centers of gravity located in left and right superior temporal region, corpus callosum, left superior longitudinal fascicle, and left optic radiation. Using non-parametric correlation analysis, IC and memory performance were significantly correlated in each of the 9 clusters (r< .61 to r< .81; df=15, p< .01 to p< .0001). The findings provide in vivo evidence for the contribution of white matter structure to visual memory in healthy people.

Characterization of white matter alterations in phenylketonuria by magnetic resonance relaxometry and diffusion tensor imaging

A multimodal MR study including relaxometry, diffusion tensor imaging (DTI), and MR spectroscopy was performed on patients with classical phenylketonuria (PKU) and matched controls, to improve our understanding of white matter (WM) lesions. Relaxometry yields information on myelin loss or malformation and may substantiate results from DTI attributed to myelin changes. Relaxometry was used to determine four brain compartments in normal-appearing brain tissue (NABT) and in lesions: water in myelin bilayers (myelin water, MW), water in gray matter (GM), water in WM, and water with long relaxation times (cerebrospinal fluid [CSF]-like signals). DTI yielded apparent diffusion coefficients (ADCs) and fractional anisotropies. MW and WM content were reduced in NABT and in lesions of PKU patients, while CSF-like signals were significantly increased. ADC values were reduced in PKU lesions, but also in the corpus callosum. Diffusion anisotropy was reduced in lesions because of a stronger decrease in the longitudinal than in the transverse diffusion. WM content and CSF-like components in lesions correlated with anisotropy and ADC. ADC values in lesions and in the corpus callosum correlated negatively with blood and brain phenylalanine (Phe) concentrations. Intramyelinic edema combined with vacuolization is a likely cause of the WM alterations. Correlations between diffusivity and Phe concentrations confirm vulnerability of WM to high Phe concentrations.

White matter anisotropy related to electrophysiology of first episode schizophrenia during NoGo inhibition

Patients with schizophrenia have reduced execution functions and white matter alterations indicating cerebral disconnectivity. Here we investigated the relationship between white matter integrity and event related potentials (ERP) during a continuous performance test (CPT). Anisotropy values were correlated with the brain electrical P300 microstate duration and P300 latency associated to the NoGo- and the Go-stimuli of the CPT in 11 patients with first episode schizophrenia and 11 matched healthy controls. Both groups showed significant positive correlations of the NoGo-microstate duration with the white matter signal in the superior frontal region, the optic radiation, the posterior cingulate, and the inferolateral fascicle. In addition, patients with first episode schizophrenia had significant correlations with the right radiation and the left genu of the corpus callosum, bilateral geniculate, and the left middle and the superior temporal regions. We interpreted these findings as a sign of functional correlates of extended circuits for the active inhibition of a motor response in the visual CPT as compared to controls.

[Oral erythroplakia and erythroleukoplakia: red and red-white dysplastic lesions of the oral mucosa--part 2: cytodiagnosis, pathogenesis, therapy, and prognostic aspects]

The second part of the present review article presents and discusses the current literature regarding cytodiagnostic aspects, pathogenesis, therapy, incidence of recurrence, and malignant transformation rate of oral erythroplakia (OE) and oral erythroleukoplakia (OEL). Oral cytopathology, eventually in combination with DNA cytometry, can add valuable information to conventional histopathology, but is not able yet to replace the aforementioned. Numerous molecular genetic variants have been studied in precancerous lesions to gain knowledge about the prognosis of these lesions. Still, there are no evidence-based parameters available to safely detect precursor lesions that will undergo malignant transformation in the future. Excision of OE and OEL should be performed with a margin of safety using the CO2 laser or a scalpel. Data about incidence of recurrence and malignant tranformation rates of OE are mostly based upon case reports or case series. The OEL has a significantly higher risk of malignant transformation than oral leukoplakias.

[Oral erythroplakia and erythroleukoplakia: red and red-white dysplastic lesions of the oral mucosa--part 1: epidemiology, etiology, histopathology and differential diagnosis]

Oral erythroplakia (OE) and oral erythroleukoplakia (OEL; synonym: speckled leukoplakia) are working diagnoses for red and red-white lesions of the oral mucosa after exclusion of all other possible diagnoses for lesions with a similar clinical appearance. A good knowledge of oral medicine and possible differential diagnoses of oral mucosal pathologies is mandatory to correctly detect OE and OEL on this exclusion basis. In the present review article in a series of two, epidemiologic data, etiologic factors, possible differential diagnoses, and the histopathologic characteristics of OE and OEL will be presented and discussed regarding the current literature. A thorough histopathologic examination of these epithelial precursor lesions is mandatory to recognise the presence and the severity of epithelial dysplasia, which is a decisive factor for the subsequent treatment planning.